Canonical Allele Identifier: CA16602936

Gene: PPP2R1A

Linked Data

• ClinVar Variation Id: 376504
• ClinVar RCV Id: RCV000433795 ; RCV000444299
• dbSNP Id: rs786205228
• COSMIC: COSM86034
• MyVariant Identifiers: chr19:g.52715971C>G (hg19) ; chr19:g.52212718C>G (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212718C>G , CM000681.2:g.52212718C>G	GRCh38
NC_000019.9:g.52715971C>G , CM000681.1:g.52715971C>G	GRCh37
NC_000019.8:g.57407783C>G	NCBI36
NG_047068.1:g.27917C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.656C>G	ENSP00000391905.3:p.Pro219Arg
ENST00000703395.1:c.-2C>G	ENSP00000515286.1:n.-2C>G
ENST00000703396.1:n.480C>G
ENST00000703397.1:c.-2C>G	ENSP00000515287.1:n.-2C>G
ENST00000703398.1:c.578C>G	ENSP00000515288.1:p.Pro193Arg
ENST00000703421.1:n.689C>G
ENST00000703422.1:c.512C>G	ENSP00000515292.1:p.Pro171Arg
ENST00000703423.1:c.-2C>G	ENSP00000515293.1:n.-2C>G
ENST00000322088.11:c.536C>G MANE Select	ENSP00000324804.6:p.Pro179Arg
ENST00000322088.10:c.536C>G	ENSP00000324804.6:p.Pro179Arg
ENST00000454220.6:c.656C>G	ENSP00000391905.2:p.Pro219Arg
ENST00000462047.1:n.227C>G
ENST00000462990.5:c.-2C>G	ENSP00000470504.1:n.-2C>G
NM_014225.5:c.536C>G	NP_055040.2:p.Pro179Arg
NR_033500.1:n.730C>G
NM_001363656.1:c.-2C>G	NP_001350585.1:n.-2C>G
NM_014225.6:c.536C>G MANE Select	NP_055040.2:p.Pro179Arg
NM_001363656.2:c.-2C>G	NP_001350585.1:n.-2C>G
NR_033500.2:n.480C>G